Canonical Allele Identifier: CA123774
Gene: MPL HGNC NCBI
ClinVar RCV:
RCV000015219
RCV001038272
RCV001818159
ClinVar Variation:
14156
COSMIC:
COSM4753964
COSM4753965
dbSNP:
121913611
gnomAD v2:
1:43805713 C / T
gnomAD v3:
1:43340042 C / T
gnomAD v4:
chr1-43340042-C-T
Joint Max Group AF 0.00011561 (NFE)
Genomes Max Group AF 0.00007889 (AFR)
Exomes Max Group AF 0.00011718 (NFE)
MyVariant.info:
GRCh38 chr1:g.43340042C>T
GRCh37 chr1:g.43805713C>T
Revel Score:
ENST00000372468 0.804
ENST00000372470 (MANE Select) 0.804
ENST00000413998 0.804
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43340042C>T , CM000663.2:g.43340042C>T GRCh38
NC_000001.10:g.43805713C>T , CM000663.1:g.43805713C>T GRCh37
NC_000001.9:g.43578300C>T NCBI36
NG_007525.1:g.7239C>T , LRG_510:g.7239C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.769C>T MANE Select ENSP00000361548.3:p.Arg257Cys
ENST00000413998.7:c.748C>T ENSP00000414004.3:p.Arg250Cys
ENST00000638732.1:n.769C>T
ENST00000372470.7:c.769C>T ENSP00000361548.3:p.Arg257Cys
ENST00000413998.6:c.769C>T ENSP00000414004.2:p.Arg257Cys
ENST00000612993.1:c.769C>T ENSP00000480273.1:p.Arg257Cys
NM_005373.2:c.769C>T , LRG_510t1:c.769C>T NP_005364.1:p.Arg257Cys
XM_011541478.1:c.748C>T XP_011539780.1:p.Arg250Cys
XM_017001320.1:c.940C>T XP_016856809.1:p.Arg314Cys
NM_005373.3:c.769C>T MANE Select NP_005364.1:p.Arg257Cys
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